List of variants in gene PROM1 reported as likely pathogenic for cone-rod dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.1301+2T>C	rs775957498	0.00004
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)	rs761911901	0.00003
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)	rs374017889	0.00003
NM_006017.3(PROM1):c.1142-1G>A	rs752619497	0.00001
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006017.3(PROM1):c.139del (p.His47fs)	rs747512450
NM_006017.3(PROM1):c.1853T>G (p.Leu618Arg)
NM_006017.3(PROM1):c.1984-1G>A
NM_006017.3(PROM1):c.2118del (p.Asn707fs)
NM_006017.3(PROM1):c.2267G>A (p.Trp756Ter)
NM_006017.3(PROM1):c.2309del (p.Pro770fs)	rs878853400
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter)	rs766357803
NM_006017.3(PROM1):c.2476G>C (p.Asp826His)	rs1333833629
NM_006017.3(PROM1):c.380G>A (p.Gly127Glu)	rs1733212554

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